Planning a family is a time of great joy and anticipation. Expectant parents want the safest pregnancy possible for both mother and child. Major advances in the field of genetics have given individuals and couples access to more information about inherited disorders than ever before. One of the best times to test for common genetic disorders may be prior to conception.
Riley at IU Health provides genetic counseling and testing before, during or after a pregnancy. For couples who are already pregnant, we offer prenatal genetic counseling and numerous testing options that can reveal information about the health of a developing child.
Whether couples are facing a known genetic condition or have no known risks, pre-conception genetic counseling can be both informative and reassuring. Genetic counselors can help a woman identify actions she can take prior to conceiving a child that may help her have an uneventful pregnancy, such as avoiding cigarettes, alcohol and recreational drugs, and eating a healthy diet or taking vitamins.
Cigarette smoking is associated with low birth weight and is most concerning during the second and third trimesters of pregnancy. Pre-conception counseling can encourage and support women who want to quit smoking before their risk accumulates.
Pre-conception counseling can also:
- Provide valuable information about an individual or couple’s health, which is connected with the health of their future child
- Identify potential risks posed by family medical history
Many circumstances can increase the risk of birth defects and other genetically transmitted disorders, including a family history of inherited or chromosomal disorders, a previous child with a birth defect or inherited condition, or a history of stillbirth or miscarriage. Other important risk factors are:
- Women over age 35 who are considering pregnancy
- Having a previous child with a learning disorder or intellectual disability
- Having been exposed to a toxic substance known to cause birth defects
- Taking medications that can affect the fetus
- Consanguinity (people who are closely related who are considering children)
- An ethnicity that places a couple at an increased risk of passing on a genetic disorder such as: African Americans and Hispanics for sickle cell, the Ashkenazi Jewish population for Tay-Sachs disease, the Mediterranean population for thalassemia and the Northern European population for cystic fibrosis
Women who have chronic health conditions like epilepsy or diabetes are also candidates for pre-conception genetic counseling.
What to Bring
Before meeting with a genetic counselor, you will be asked to gather information about your family’s medical history. We need to know about any relatives with genetic disorders, any miscarriages and early or unexplained deaths in either a mother or father’s family. The following items are of interest to your genetic counselor:
- Past medical history
- Prenatal test results from previous pregnancies
- Pregnancy ultrasounds
- Past pregnancies, including any complications
- Medicines taken before or during pregnancy
You and your genetic counselor will review all of this information together in your appointment. You can also bring your completed registration form (available below) at the time of your appointment. Your primary physician may also use our referral forms to schedule your first appointment. These forms are available below.
Patient Referral Form (Riley at IU Health). Physicians can use this form to refer patients to us for maternal-fetal care or prenatal genetic counseling.
What to Expect
What to Expect
After reviewing a detailed family medical history and considering lifestyle factors, Riley at IU Health genetic counselors can provide a risk assessment for families concerned about a genetic disorder. A risk assessment involves calculating the probability that a future child may have a genetic condition.
Our counselors can help you understand the inheritance patterns of various genetic conditions. We can also help you differentiate between the general risks faced in any pregnancy and specific risks based on your history.
Pre-conception genetic counseling offers many benefits and few downsides. A blood or saliva sample is the only requirement for genetic carrier screening. A carrier is an individual who can pass a gene for a disorder to their child, even though they have no symptoms of that condition. Carrier screening can reveal whether you or your partner have a change in genes associated with hundreds of genetic conditions.
If both partners are carriers, your genetic counselor can explain the implications for your child and advise you of other testing and reproductive choices. One option may be in vitro fertilization followed by testing an embryo for that genetic condition prior to implantation in the uterus. This is known as pre-implantation genetic screening.
As part of pre-pregnancy health care, your healthcare provider may recommend blood tests to determine if you have hepatitis, anemia, HIV or a sexually-transmitted disease, all of which can affect a fetus.
Pre-conception genetic counseling can alleviate uncertainty. If concerns develop along the way, your Riley at IU Health healthcare team and genetic counselor are there to answer questions, provide options and lend support to enhance your family’s health and wellness.
Key Points to Remember
Key Points to Remember
- Pre-conception genetic counseling can be informative and reassuring to couples in the midst of family planning.
- Pre-conception genetic counseling can identify actions a woman can take prior to conceiving a child that may prevent or limit genetic conditions from affecting her child.
- A blood or saliva sample is the only requirement for genetic carrier screening.
- Women who suffer from chronic health conditions like epilepsy or diabetes are candidates for pre-conception genetic counseling.
- Some healthcare providers recommend blood tests that determine if you have hepatitis, anemia, HIV, or a sexually-transmitted disease, all of which can affect a fetus.
Support Services & Resources
Support Services & Resources
Families can do further research about genetic counseling and genetic disorders at the following websites.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The CDC offers family planning information, including resources to help women plan a healthy pregnancy.
This is an exhaustive, consumer-friendly resource about genetic conditions, published by the U.S. National Library of Medicine.